MCID: AMY037
MIFTS: 29

Amyloidosis, Hereditary Renal malady

Nephrological, Bone, Ear, Genetic categories

Summaries for Amyloidosis, Hereditary Renal

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

MalaCards: Amyloidosis, Hereditary Renal, also known as hereditary amyloid nephropathy, is related to amyloidosis and umod-associated kidney disease. An important gene associated with Amyloidosis, Hereditary Renal is FGA (fibrinogen alpha chain), and among its related pathways are Disease and Packaging Of Telomere Ends. The compounds an 69 and iohexol have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM:47 105200

Aliases & Classifications for Amyloidosis, Hereditary Renal

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Bone, Ear


Characteristics (Orphanet epidemiological data):

49
autosomal dominant beta2-microglobulinic amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood
hereditary amyloid nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

amyloidosis, hereditary renal 47
hereditary amyloid nephropathy 49 61
progressive hereditary glomerulonephritis without deafness 61
autosomal dominant beta2-microglobulinic amyloidosis 49
amyloidosis, familial visceral 61
familial amyloid nephropathy 49
hereditary renal amyloidosis 49
amyloidosis, ostertag type 49
familial renal amyloidosis 49


External Ids:

OMIM47 105200
ICD10 via Orphanet26 E85.1, E85.0

Related Diseases for Amyloidosis, Hereditary Renal

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Amyloidosis, Hereditary Renal:



Diseases related to amyloidosis, hereditary renal

Clinical Features for Amyloidosis, Hereditary Renal

Sources:
47OMIM
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Clinical features from OMIM:

105200

Clinical synopsis from OMIM:

105200

Drugs & Therapeutics for Amyloidosis, Hereditary Renal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Amyloidosis, Hereditary Renal

Anatomical Context for Amyloidosis, Hereditary Renal

Sources:
33MalaCards
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MalaCards organs/tissues related to Amyloidosis, Hereditary Renal:

33
Kidney

Animal Models for Amyloidosis, Hereditary Renal or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Amyloidosis, Hereditary Renal

Sources:
51PubMed
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Articles related to Amyloidosis, Hereditary Renal:

idTitleAuthorsYear
1
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. (22540225)
2012
2
Outcome of renal transplant in hereditary gelsolin amyloidosis. (19440061)
2009
3
A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes. (17048217)
2006
4
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. (16221867)
2005
5
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. (15185496)
2004
6
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. (12675840)
2003
7
Hereditary systemic amyloidosis with renal involvement. (12832750)
2003
8
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. (11849445)
2002
9
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. (10534505)
1999
10
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. (8097946)
1993

Genetic Variations for Amyloidosis, Hereditary Renal

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Amyloidosis, Hereditary Renal:

63
id Symbol AA change Variation SNP ID
1p.Gly50ArgVAR_000609rs28931574
2p.Leu84ArgVAR_000610
3FGAp.Glu545ValVAR_010731
4FGAp.Arg573LeuVAR_010732
5p.Ile74ThrVAR_004280
6p.Asp85HisVAR_004281

Expression for genes affiliated with Amyloidosis, Hereditary Renal

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyloidosis, Hereditary Renal

Search GEO for disease gene expression data for Amyloidosis, Hereditary Renal.

Pathways for genes affiliated with Amyloidosis, Hereditary Renal

Sources:
54Reactome
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Pathways related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FGA, B2M
2
Hide members
9.1FGA, B2M

Compounds for genes affiliated with Amyloidosis, Hereditary Renal

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1an 69459.4FGA, B2M
2iohexol459.4FGA, B2M
36-ketoprostaglandin f1alpha459.4FGA, B2M
4cuprophan459.4B2M, FGA
5polysulfone459.3FGA, B2M
6cellulose acetate459.3FGA, B2M
7txb2459.3B2M, FGA
8pge1459.2FGA, B2M
9pge2459.2FGA, B2M
10lactate459.1B2M, FGA
11cholesterol45 29 11 2412.1FGA, B2M
12thymidine45 2410.0FGA, B2M
13creatinine458.8FGA, B2M

GO Terms for genes affiliated with Amyloidosis, Hereditary Renal

Sources:
16Gene Ontology
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Cellular components related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.1FGA, B2M

Products for genes affiliated with Amyloidosis, Hereditary Renal

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis, Hereditary Renal

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet